GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004876221 | Thyroid | ATC | mesenchymal cell differentiation | 116/6293 | 236/18723 | 5.08e-07 | 7.30e-06 | 116 |
GO:004860825 | Thyroid | ATC | reproductive structure development | 190/6293 | 424/18723 | 8.40e-07 | 1.11e-05 | 190 |
GO:005105618 | Thyroid | ATC | regulation of small GTPase mediated signal transduction | 141/6293 | 302/18723 | 1.43e-06 | 1.77e-05 | 141 |
GO:006048521 | Thyroid | ATC | mesenchyme development | 136/6293 | 291/18723 | 2.04e-06 | 2.43e-05 | 136 |
GO:004657818 | Thyroid | ATC | regulation of Ras protein signal transduction | 94/6293 | 189/18723 | 3.12e-06 | 3.55e-05 | 94 |
GO:003009933 | Thyroid | ATC | myeloid cell differentiation | 170/6293 | 381/18723 | 4.26e-06 | 4.68e-05 | 170 |
GO:007190215 | Thyroid | ATC | positive regulation of protein serine/threonine kinase activity | 96/6293 | 200/18723 | 1.63e-05 | 1.51e-04 | 96 |
GO:004654621 | Thyroid | ATC | development of primary male sexual characteristics | 72/6293 | 142/18723 | 1.85e-05 | 1.69e-04 | 72 |
GO:000858421 | Thyroid | ATC | male gonad development | 71/6293 | 141/18723 | 2.83e-05 | 2.38e-04 | 71 |
GO:004886321 | Thyroid | ATC | stem cell differentiation | 97/6293 | 206/18723 | 3.88e-05 | 3.15e-04 | 97 |
GO:004340513 | Thyroid | ATC | regulation of MAP kinase activity | 82/6293 | 177/18723 | 2.87e-04 | 1.83e-03 | 82 |
GO:000268719 | Thyroid | ATC | positive regulation of leukocyte migration | 65/6293 | 135/18723 | 3.18e-04 | 1.99e-03 | 65 |
GO:004666112 | Thyroid | ATC | male sex differentiation | 77/6293 | 165/18723 | 3.27e-04 | 2.04e-03 | 77 |
GO:007188711 | Thyroid | ATC | leukocyte apoptotic process | 53/6293 | 106/18723 | 3.48e-04 | 2.16e-03 | 53 |
GO:001821211 | Thyroid | ATC | peptidyl-tyrosine modification | 156/6293 | 378/18723 | 1.01e-03 | 5.36e-03 | 156 |
GO:000840613 | Thyroid | ATC | gonad development | 96/6293 | 221/18723 | 1.40e-03 | 7.25e-03 | 96 |
GO:00181086 | Thyroid | ATC | peptidyl-tyrosine phosphorylation | 153/6293 | 375/18723 | 1.96e-03 | 9.48e-03 | 153 |
GO:00485688 | Thyroid | ATC | embryonic organ development | 172/6293 | 427/18723 | 2.08e-03 | 9.84e-03 | 172 |
GO:190153212 | Thyroid | ATC | regulation of hematopoietic progenitor cell differentiation | 19/6293 | 32/18723 | 2.46e-03 | 1.14e-02 | 19 |
GO:00451374 | Thyroid | ATC | development of primary sexual characteristics | 97/6293 | 227/18723 | 2.47e-03 | 1.14e-02 | 97 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0401512 | Cervix | CC | Rap1 signaling pathway | 56/1267 | 210/8465 | 6.23e-06 | 5.61e-05 | 3.32e-05 | 56 |
hsa040142 | Cervix | CC | Ras signaling pathway | 51/1267 | 236/8465 | 3.55e-03 | 1.34e-02 | 7.91e-03 | 51 |
hsa040109 | Cervix | CC | MAPK signaling pathway | 62/1267 | 302/8465 | 4.89e-03 | 1.67e-02 | 9.86e-03 | 62 |
hsa0523010 | Cervix | CC | Central carbon metabolism in cancer | 18/1267 | 70/8465 | 1.29e-02 | 3.87e-02 | 2.29e-02 | 18 |
hsa05224 | Cervix | CC | Breast cancer | 32/1267 | 147/8465 | 1.66e-02 | 4.88e-02 | 2.88e-02 | 32 |
hsa0401513 | Cervix | CC | Rap1 signaling pathway | 56/1267 | 210/8465 | 6.23e-06 | 5.61e-05 | 3.32e-05 | 56 |
hsa0401411 | Cervix | CC | Ras signaling pathway | 51/1267 | 236/8465 | 3.55e-03 | 1.34e-02 | 7.91e-03 | 51 |
hsa0401012 | Cervix | CC | MAPK signaling pathway | 62/1267 | 302/8465 | 4.89e-03 | 1.67e-02 | 9.86e-03 | 62 |
hsa0523013 | Cervix | CC | Central carbon metabolism in cancer | 18/1267 | 70/8465 | 1.29e-02 | 3.87e-02 | 2.29e-02 | 18 |
hsa052241 | Cervix | CC | Breast cancer | 32/1267 | 147/8465 | 1.66e-02 | 4.88e-02 | 2.88e-02 | 32 |
hsa04640 | Cervix | HSIL_HPV | Hematopoietic cell lineage | 18/459 | 99/8465 | 4.97e-06 | 8.10e-05 | 6.54e-05 | 18 |
hsa046401 | Cervix | HSIL_HPV | Hematopoietic cell lineage | 18/459 | 99/8465 | 4.97e-06 | 8.10e-05 | 6.54e-05 | 18 |
hsa041516 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
hsa0415113 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
hsa0401023 | Oral cavity | EOLP | MAPK signaling pathway | 68/1218 | 302/8465 | 7.48e-05 | 3.40e-04 | 2.01e-04 | 68 |
hsa0415123 | Oral cavity | EOLP | PI3K-Akt signaling pathway | 73/1218 | 354/8465 | 7.03e-04 | 2.69e-03 | 1.59e-03 | 73 |
hsa0522121 | Oral cavity | EOLP | Acute myeloid leukemia | 19/1218 | 67/8465 | 2.20e-03 | 7.32e-03 | 4.32e-03 | 19 |
hsa040722 | Oral cavity | EOLP | Phospholipase D signaling pathway | 31/1218 | 148/8465 | 1.82e-02 | 4.67e-02 | 2.76e-02 | 31 |
hsa0523041 | Oral cavity | EOLP | Central carbon metabolism in cancer | 17/1218 | 70/8465 | 1.87e-02 | 4.75e-02 | 2.80e-02 | 17 |
hsa0401033 | Oral cavity | EOLP | MAPK signaling pathway | 68/1218 | 302/8465 | 7.48e-05 | 3.40e-04 | 2.01e-04 | 68 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
KIT | SNV | Missense_Mutation | | c.656C>T | p.Ala219Val | p.A219V | P10721 | protein_coding | tolerated(0.25) | benign(0.019) | TCGA-A8-A07G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
KIT | SNV | Missense_Mutation | | c.117N>G | p.Ile39Met | p.I39M | P10721 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
KIT | SNV | Missense_Mutation | | c.1295G>A | p.Gly432Glu | p.G432E | P10721 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
KIT | SNV | Missense_Mutation | rs753318751 | c.771G>T | p.Glu257Asp | p.E257D | P10721 | protein_coding | tolerated(0.62) | benign(0.011) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | rs386833402 | c.839N>T | p.Ala280Val | p.A280V | P10721 | protein_coding | tolerated(1) | benign(0.001) | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | rs143772138 | c.2057N>A | p.Arg686His | p.R686H | P10721 | protein_coding | deleterious(0.01) | benign(0.096) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | novel | c.1391N>T | p.Ser464Leu | p.S464L | P10721 | protein_coding | tolerated(0.35) | benign(0.172) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | rs781633384 | c.106C>A | p.Pro36Thr | p.P36T | P10721 | protein_coding | tolerated(0.39) | benign(0.112) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
KIT | insertion | Nonsense_Mutation | novel | c.2253_2254insCAAGGAGACCTCAGTAAATATTATTGATGG | p.Asp751_Val752insGlnGlyAspLeuSerLysTyrTyrTerTrp | p.D751_V752insQGDLSKYY*W | P10721 | protein_coding | | | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | novel | c.2401A>G | p.Thr801Ala | p.T801A | P10721 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | | Pazopanib HCl | | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178102337 | SORAFENIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | | G007-LK | | 28611108 |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | | Sorafenib | SORAFENIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 4'-N-BENZOYLSTAUROSPORINE | | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | CHEMBL124660 | TANDUTINIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178102585 | DOVITINIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178102286 | QUIZARTINIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 328083485 | OSI-930 | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | | OSI-930 | OSI-930 | |